Collagen VI (Bethlem-Intermediate-Ullrich)

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• Ullrich Congenital Myopathy Fact Sheet, 2015

• Bethlem Myopathy Fact Sheet, 2012

• Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in collagen VI-related dystrophies (COL6-RD) and laminin alpha2-related muscular dystrophy 9LAMA2-RD), Goff, 2020

• Congenital muscular dystrophy-associated inflammatory chemokine provide axis for effective recruitment of therapeutic adult stem cell into muscles, Alexeev, 2020

• The Polyphenol Pterostilbene Ameliorates the Myopathic Phenotype of Collagen VI Deficient Mice via Autophagy Induction, Metti, 2020

• Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A in Dominant Ullrich Congenital Muscular Dystrophy, Aguti, 2020

• Structure of a collagen VI a3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations, Solomon-Degefa, 2020

• A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion, Simsek-Kiper, 2020

• The common microRNA signatures associated with mitochondrial dysfunction in different muscular dystrophies, Aksu-Menges, 2020

• Cervical Hyperextension Treated by Posterior Spinal Correction and Fusion in a Patient with Ullrich Congenital Muscular Dystrophy: A Case Report, Salto, 2020

• Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD, Aguti, 2020

• Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity, Stavusis, 2020

• Pathogenic Variants in COL6A3 Cause Ullrich-like Congenital Muscular Dystrophy in Young Labrador Retriever Dogs, Bolduc, 2020

• Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy, Choi, 2020

• Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy, Salim, 2020

• Clinical features of collagen VI-related dystrophies: A large Brazilian cohort, Zanoteli, 2020

• Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutation, Antoniel, 2020

• Hypoglycemia in patients with congenital muscle disease, Hayes, 2020

• A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy, Jokela, 2019

• Spatio-temporal expression and distribution of collagen VI during zebrafish development, Tonelotto, 2019

• Unraveling the pathophysiology of Bethlem Myopathy using a zebrafish model for the disease, Idoux, 2019

• Collagen VI Deficiency Results in Structural Abnormalities in the Mouse Lung, Mereness, 2019

• Moderate-intensity aerobic exercise improves fitness in bethlem myopathy, Vissing, 2019

• Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies, Jain, 2019

• Bethlem myopathy: a series of 16 patients and description of seven new associated mutations, Panades-de Oliveira, 2019

• Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Musculary Dystrophy, Liu, 2019

• Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy, Shimomura, 2019

• A Novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy, Jokela, 2019

• Role of adiponectin in the metabolism of skeletal muscles in collagen VI-related myopathies, Gamberi, 2019

• A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies, Bolduc, 2019

• COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report, Bao, 2019

• Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene, Peng 2019

• Bethlem myopathy: a series of 16 patients and description of seven new associated mutations, Panades‑de Oliveira, 2019

• Extracellular Collagen VI Has Prosurvival and Autophagy Instructive Properties in Mouse Fibroblasts, Castagnaro, 2018

• COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysical Study, Verma, 2018

• Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum, Marakhonov, 2018

• Targeted next generation sequencing reveals novel splice site mutations in COL6A3 in a patient with congenital muscular dystrophy, Das Bhowmik, 2018

• Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance, Suarez, 2018

• Extracellular matrix-driven congenital muscular dystrophies, Mohassel, 2018

• Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum, Marakhonov, 2018

• ​​COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiologcal Study, Verma, 2018

• Authentication of collagen VI antibodies, Endicott, 2018

• Muscle MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018

• Collagen VI is required for the structural and functional integrity of neuromuscular junction, Cescon, 2018

• Collagen type VI-related myopathy, Souza, 2017

• Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability, Rodriguez, 2017

• Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin a2-related dystrophy, Meilleur, 2017

• Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy, Marrosu, 2017​

• Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management, Fraser, 2017

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing, Cummings, 2017

• Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond, Lamande, 2017

• Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea, Lee, 2017​

• Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders, D'Amico, 2017

• Episodes of recurrent pneumothorax in a patient with collagen VI-related congenital muscular dystrophy, Bellance, 2017

• Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy, Butterfield, 2017​

• Deep RNA profiling identified Clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy, Scotton, 2016

• Target and Sandwich Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies, Fu, 2016

• Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy, Sardone, 2016

• Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy, Bendixen, 2016

• Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Middle End of the Spectrum, Cruz, 2016

• Distrofia muscular congénita de tipo Ullrich. Utilidad de la resonancia magnética muscular en el diagnóstico, Carrasco-Marina, 2015

• Bethlem myopathy- long-term follow-up identifies COL6 mutations predicting severe clinical evolution, Deconinck, 2015

• Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators, Paco, 2015

• Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability, Donkervoort, 2015

• Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies, Meilleur, 2015

• Diaphragmatic dysfunction in Collagen VI myopathies, Quijano-Roy, 2014

• Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle, Triplett, 2014

• Natural history of pulmonary function in collagen VI-related myopathies, Foley, 2013

• The expanded collagen VI family: new chains and new questions, Fitzgerald, 2013

• Collagen Type VI-Related Disorders, Lampe, 2012

• The Collagen VI-Related Myopathies- Muscle Meets Its Matrix- The Clinical Spectrum of Disease, Bonnemann, 201

• Collagen VI-related muscle disorders, Higuchi, 2011

• Zebrafish models of collagen VI-related myopathies, Telfer, 2010

• Natural history of Ullrich congenital muscular dystrophy, Nadeau, 2009

• Collagen VI involvement in Ullrich syndrome- A clinical, genetic, and immunohistochemical study, Mercuri, 2002